Renal agenesis, bilateral
ORPHA:1848Clinical subtypeAutosomal recessiveAntenatal, Neonatal
Ассоциированные гены6
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| WNT9B | Wnt family member 9B | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 602864 |
| GREB1L | GREB1 like retinoic acid receptor coactivator | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 617782 |
| RET | ret proto-oncogene | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 164761 |
| ITGA8 | integrin subunit alpha 8 | Disease-causing germline mutation(s) in | gene with protein product | 604063 |
| FGF20 | fibroblast growth factor 20 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 605558 |
| GFRA1 | GDNF family receptor alpha 1 | Disease-causing germline mutation(s) in | gene with protein product | 601496 |
Фенотипы (HPO)18
Очень частый (80–99%)8
HP:0000104Renal agenesis
HP:0000286Epicanthus
HP:0000316Hypertelorism
HP:0000369Low-set ears
HP:0000457Depressed nasal ridge
HP:0001562Oligohydramnios
HP:0001958Nonketotic hypoglycemia
HP:0002089Pulmonary hypoplasia
Частый (30–79%)6
HP:0001563Fetal polyuria
HP:0002242Abnormal intestine morphology
HP:0002575Tracheoesophageal fistula
HP:0005107Abnormal sacrum morphology
HP:0030680Abnormal cardiovascular system morphology
HP:0100589Urogenital fistula
Периодический (5–29%)4
HP:0000008Abnormal morphology of female internal genitalia
HP:0000175Cleft palate
HP:0010497Sirenomelia
HP:0100335Non-midline cleft of the upper lip
Эпидемиология18
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Prevalence at birth | 1-9 / 100 000 | 1.7 | Europe | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 4.5 | France | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 5.8 | Germany | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 1.4 | Italy | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 5.7 | Netherlands | Value and class |
| Prevalence at birth | 1-5 / 10 000 | 10.8 | Ireland | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 3.2 | Norway | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 1.2 | Poland | Value and class |
| Prevalence at birth | 1-9 / 1 000 000 | 0.6 | Spain | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 2.2 | Hungary | Value and class |
| Prevalence at birth | 1-5 / 10 000 | 19 | Denmark | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 9.7 | Austria | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 3 | Belgium | Value and class |
| Prevalence at birth | 1-5 / 10 000 | 13.6 | Croatia | Value and class |
| Prevalence at birth | 1-5 / 10 000 | 24.1 | Malta | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 1.2 | United Kingdom | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 3.2 | Ukraine | Value and class |
| Point prevalence | Unknown | — | Europe | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)